Sage Journals: Discover world-class research

Open access

Research article

First published 2015

Distinct Niemann-Pick Disease Type C Clinical,Cytological,and Biochemical Phenotype in an Adult Patient With 1 Mutated,Overexpressed NPC1 Allele

Julia Jecel, Klaus Harzer, Eduard Paschke [...]

Journal of Inborn Errors of Metabolism and Screening

Open access

Research article

First published 2022-09

Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients

Jiafeng Yao, Hao Gu, Wenjun Mou [...]

International Journal of Immunopathology and Pharmacology

Free access

Research article

First published 2009-06

The G1691A Mutation of the Factor V Gene (Factor V Leiden) and the G20210A Mutation of the Prothrombin Gene as Risk Factors in Thrombotic Microangiopathies

Christoph Sucker, Christine Kurschat, Gerd R. Hetzel [...]

Clinical and Applied Thrombosis/Hemostasis

Free access

Other

First published 2009-02

The First Homozygous Family for Prothrombin G20210A Polymorphism Reported in Latin America

Alejandro Roman-Gonzalez, Henry Cardona, Walter Cardona-Maya [...]

Clinical and Applied Thrombosis/Hemostasis

Open access

Article commentary

First published 2018

CNTNAP2 Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies?

Giorgia Canali, Laurence Goutebroze

Neuroscience Insights

Free access

Research article

First published 2000-04

Risk of Thrombosis in Patients Homozygous and Heterozygous for Factor V Leiden in the East Bohemian Region

Petr Dulíček, J. Maly, M. Šafářová

Clinical and Applied Thrombosis/Hemostasis

Retricted access

Research article

First published 2008-5

A Family with Atypical Cystic Fibrosis: Brother and Sister with Heterozygosity for Both G542X and R117H

M. Esther Farez-Vidal, M. Amelia Gómez-Llorente, Carolina Gómez-Llorente [...]

Pediatric and Developmental Pathology

Retricted access

Research article

First published 2021-6

Congenital Mirror Movements Associated With Brain Malformations

Andreea Nissenkorn, Keren Yosovich, Zvi Leibovitz [...]

Journal of Child Neurology

Retricted access

Brief report

First published 2021-10

Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism

Aryel Furman, Zeina Hannoush, Francisco Barrera Echegoyen [...]

Thyroid®

Retricted access

Research article

First published 2025-1

Vascular Abnormalities and Neurofibromatosis Type 1: A Paediatric Case Series

Paolo Currao, Marta Balzarini, Dario Pruna [...]

Journal of Child Neurology

Search results